Document Detail


Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3.
MedLine Citation:
PMID:  12673656     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Mental retardation (MR) affects an estimated 2-3% of the population. A considerable fraction of mental retardation is due to X-linked genes. Of these genes, about 136 are responsible for syndromic X-linked MR (XLMR). One such XLMR syndrome, Stocco dos Santos, was first described in 1991. This family was re-visited, which allowed further delineation of the clinical phenotype. Additionally, linkage analysis was conducted, which resulted in the localization of this XLMR syndrome to the pericentric region, Xp11.3 to Xq21.1, with a maximum LOD score of 3.14 at loci AR and DXS983.
Authors:
Rita C Stocco dos Santos; Nelson H C Castro; A Lillia Holmes; Willy Beçak; Darci Tackels-Horne; Charles J Lindsey; Herbert A Lubs; Roger E Stevenson; Charles E Schwartz
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  118A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Apr 
Date Detail:
Created Date:  2003-04-03     Completed Date:  2004-01-06     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  255-9     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Affiliation:
Laboratorio de Genetica, Instituto Butantan, Sao Paulo, Brazil. ritastocco@yahoo.com
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping
Chromosomes, Human, X*
Female
Genetic Markers
Humans
Linkage (Genetics)
Lod Score
Male
Mental Retardation, X-Linked / diagnosis*,  genetics*
Pedigree
Phenotype
Syndrome
Grant Support
ID/Acronym/Agency:
HD26202/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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